Allele Registry

Canonical Allele Identifier: PA2828415759

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000034664

RCV000567483

RCV001088019

RCV004534725

ClinVar Variation:

41747

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Val1746Met	CA022424 NM_001370404.1:c.5236G>A